Canonical Allele Identifier: CA339966
Gene: MCEE HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124445G>A , CM000664.2:g.71124445G>A GRCh38
NC_000002.11:g.71351575G>A , CM000664.1:g.71351575G>A GRCh37
NC_000002.10:g.71205083G>A NCBI36
NG_008977.1:g.10820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.139C>T MANE Select ENSP00000244217.5:p.Arg47Ter
ENST00000244217.5:c.139C>T ENSP00000244217.5:p.Arg47Ter
ENST00000413592.5:c.7C>T ENSP00000391140.1:p.Arg3Ter
ENST00000486135.1:c.-147C>T ENSP00000441569.1:n.-147C>T
ENST00000494660.6:c.-147C>T ENSP00000437361.1:n.-147C>T
NM_032601.3:c.139C>T NP_115990.3:p.Arg47Ter
XM_005264613.2:c.139C>T XP_005264670.1:p.Arg47Ter
XR_939729.1:n.208C>T
XR_939729.2:n.208C>T
NM_032601.4:c.139C>T MANE Select NP_115990.3:p.Arg47Ter